scholarly journals Road to A Rare Diagnosis: A Case Report Exploring Phenotype, Clinical Management and Outcome of a Rare and Novel Unbalanced Translocation causing complete Trisomy 17p

2021 ◽  
Author(s):  
Melab Musabi ◽  
Ayman Saker ◽  
Jessi Baer ◽  
Peter Wang ◽  
Chitra Prasad ◽  
...  
Keyword(s):  
Case Report ◽  
Key Words ◽  
Clinical Management ◽  
Clinical Course ◽  
Unbalanced Translocation ◽  
Paternal Origin ◽  
Chromosomal Disorder ◽  
Rare Diagnosis ◽  
Mosaic Trisomy

Background: Trisomy 17 is a rare chromosomal disorder with limited existing literature that mostly refer to mosaic Trisomy 17 cases. Our report summarizes the clinical course of a neonate with a Trisomy 17 karyotype der (14;17) (q10; p10), + 17 pat. Key words: Trisomy 17, Unbalanced translocation, Paternal origin

scholarly journals Prostate abscess in a paediatric patient: A rare diagnosis

2021 ◽  
Vol 25 (1) ◽  
Author(s):  
Atish Vanmali ◽  
Mario Haines
Keyword(s):  
Risk Factors ◽  
Case Report ◽  
Clinical Course ◽  
Atypical Presentation ◽  
Age Group ◽  
Detailed History ◽  
Paediatric Age ◽  
Clinical Dilemma ◽  
Sixth Decade ◽  
Rare Diagnosis

Prostate abscess (PA) is an uncommon clinical manifestation that typically presents in the fifth to sixth decade of age and sporadically affects neonates. These characteristics, coupled with the atypical presentation, represent a clinical dilemma and a challenging diagnosis. A detailed history depicting the clinical course and the presence of risk factors is imperative to alert the clinician of the possibility of a PA. In this case report, we present a surgically confirmed PA, a diagnosis that is rarely encountered within the paediatric age group.

Ectodermal Dysplasia in two siblings: A Case report.

2019 ◽  
Author(s):  
CHAITHRA KALKUR ◽  
NILOFER HALIM ◽  
ANUSHA RANGARE ◽  
Rumisha .
Keyword(s):  
Case Report ◽  
Key Words ◽  
Clinical Features ◽  
Ectodermal Dysplasia ◽  
Heterogeneous Group ◽  
Eccrine Glands ◽  
Key Words Ectodermal Dysplasia

Ectodermal dysplasia is a heterogeneous group of inherited disorder affecting two or more ectodermally derived tissues such as skin, hair, nails, eccrine glands and teeth. The disorder is of two types: Hypohydrotic ectodermal dysplasia/Christ seimens –Touraine syndrome and Hydrotic ectodermal dysplasia/clousten syndrome. Commonly associated signs include hypohidrosis, anomalous dentition, onychodysplasia, hypotrichosis. Multidisciplinary approaches are required for optimal treatment3. Here, we present two cases of 19 and 13 year old male siblings who were diagnosed with the disorder based upon their clinical features. Key Words: ectodermal dysplasia, hypodontia; anomalous dentition.

Chylopericardium following Atrial Septal Defect Repair: Case Report

2005 ◽  
Vol 8 (1) ◽  
pp. 23 ◽  
Author(s):  
Sanjay Kumar ◽  
Bharati Sinha
Keyword(s):  
Case Report ◽  
Atrial Septal Defect ◽  
Cardiac Tamponade ◽  
Unusual Case ◽  
Septal Defect ◽  
Clinical Course ◽  
Defect Repair ◽  
Cardiac Operations

Chylopericardium after intrapericardial cardiac operations is extremely rare. We present an unusual case of postoperative chylopericardium with cardiac tamponade following atrial septal defect repair, and we comment on the clinical course and treatment.

OBTURATOR HERNIA: A CASE REPORT

2016 ◽  
pp. 106-109
Author(s):  
Hoang Minh Thi Nguyen ◽  
Huu Tri Nguyen ◽  
Thanh Thao Nguyen
Keyword(s):  
Computed Tomography ◽  
Case Report ◽  
Intestinal Obstruction ◽  
Key Words ◽  
Clinical Manifestation ◽  
Elderly Women ◽  
Obturator Hernia ◽  
Abdominal Hernia ◽  
Mechanical Obstruction

Obturator hernia is a rare pelvic hernia which accounts for 1% of all abdominal hernia. Clinical manifestation is ussually unspecific. Obturator hernia is often diagnosed by computed tomography or ultrasound. We present a case of obturator hernia in an elderly women who was successfully diagnosed and treated at Hue Univeristy of Medicine and Pharmacy. Key words: obturator hernia, mechanical obstruction, intestinal obstruction, Richter obturator hernia, strangulation

scholarly journals Evolution of superficial spreading melanoma to resemble desmoplastic melanoma: case report

2021 ◽  
Author(s):  
Martin G. Cook ◽  
Barry W. E. M. Powell ◽  
Megan E. Grant ◽  
Adele C. Green
Keyword(s):  
Case Report ◽  
Clinical Management ◽  
Unusual Case ◽  
Primary Site ◽  
Mixed Tumor ◽  
Superficial Spreading ◽  
Superficial Spreading Melanoma ◽  
Desmoplastic Melanoma ◽  
Mixed Features ◽  
Melanoma Case

AbstractDesmoplastic melanoma commonly occurs on the head and neck in a pure form, but occasionally, it occurs in a mixed tumor with another type, usually superficial spreading melanoma (SSM), and rarely as a metastasis from a primary SSM. We report here a primary SSM on the leg of a 32-year-old male which metastasised to lymph nodes, and 10 years later recurred at the primary site initially with mixed features but evolving to resemble a uniformly desmoplastic, deeply invasive melanoma. This unusual case has implications for clinical management and is additionally notable for its reversal in behavior, from metastatic to local infiltrative type, correlating with the change in morphology.

scholarly journals Androgenetic Alopecia in a Patient with Klinefelter Syndrome: Case Report and Literature Review

2020 ◽  
pp. 1-4
Author(s):  
Waleed Alsalhi ◽  
Antonella Tosti
Keyword(s):  
Case Report ◽  
Klinefelter Syndrome ◽  
Light Therapy ◽  
Androgenetic Alopecia ◽  
Follicle Cells ◽  
Androgen Deficiency ◽  
Case Presentation ◽  
Low Level Light Therapy ◽  
Chromosomal Disorder ◽  
Low Testosterone

<b><i>Introduction:</i></b> Klinefelter syndrome (KS) is defined as (a chromosomal disorder in which males have an extra X chromosome). KS presents clinically with signs of androgen deficiency including low testosterone. Androgenetic alopecia (AGA) develops as a response of the hair follicle cells to androgens in individuals with genetic predisposition. <b><i>Case Presentation:</i></b> We describe a 17-year-old male patient with KS who developed AGA with a Ludwig pattern. <b><i>Conclusion:</i></b> Our patient had a good response to oral minoxidil, finasteride, and low-level light therapy.

scholarly journals Concomitant occurrence of canine transmigration and symmetrical agenesis of incisors – A case report

1970 ◽  
Vol 10 (2) ◽  
pp. 133-136 ◽  
Author(s):  
NB Nagaveni ◽  
NB Radhika ◽  
KV Umashankara ◽  
TS Satisha
Keyword(s):  
Case Report ◽  
Key Words ◽  
Dentigerous Cyst ◽  
Medical Science ◽  
Horizontal Position ◽  
Impacted Canine ◽  
Unusual Phenomenon ◽  
Mandibular Canine

Transmigration of mandibular canine is an unusual phenomenon characterized by movement of the impacted canine crossing the mandibular midline. Mandibular canine are rarely found impacted in a horizontal position in the mandible. Most of the time, this entity occurred as an isolated finding. However there are reports showing association of dentigerous cyst and a hyperdontia. The purpose of this report is to present a case of transmigrated canine associated with agenesis of mandibular both central incisors which is not reported previously. Key words: Intra-osseous migration; mandibular canine; agenesis; central incisors. DOI: http://dx.doi.org/10.3329/bjms.v10i2.7810 Bangladesh Journal of Medical Science Vol.10 No.2 Apr’11 pp.133-136

Primary prostatic lymphoma: A rare case report

1995 ◽  
Vol 62 (1_suppl) ◽  
pp. 94-96 ◽  
Author(s):  
P. Tognoni ◽  
R. Banchero ◽  
U. Repetto ◽  
C. Caviglia ◽  
M. Cussotto ◽  
...  
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Clinical Course ◽  
Rare Case Report

— We present a rare case report of a non-Hodgkin primary prostatic lymphoma. In the article we focus on the increasing number of primary urologic lymphomas, the usual indolent clinical course of such a neoplasm and the combination of surgery and chemotherapy that we performed in this case.

scholarly journals Fatal Subacute Hepatic Failure in a Patient with AA-Type Amyloidosis: Case Report

2010 ◽  
Vol 2010 ◽  
pp. 1-4 ◽  
Author(s):  
Ibrahim Altraif ◽  
Fayaz A. Handoo ◽  
Khaled O. Alsaad ◽  
Adel Gublan
Keyword(s):  
Alkaline Phosphatase ◽  
Case Report ◽  
Hepatic Failure ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Clinical Findings ◽  
Systemic Amyloidosis ◽  
Hepatic Involvement ◽  
Reactive Amyloidosis ◽  
Hepatic Amyloidosis

Although systemic amyloidosis of amyloid-associated protein (AA) type (secondary or reactive amyloidosis) frequently involves the liver, it rarely causes clinically apparent liver disease. Mild elevation of alkaline phosphatase and hepatomegaly are the most common biochemical and clinical findings, respectively. We report a case of systemic amyloidosis of AA type, which clinically presented as subacute hepatic failure and resulted in a fatal clinical course in a 69-year-old man. To the best of our knowledge, this is the fifth case of hepatic amyloidosis of AA type that clinically presented as fatal subacute hepatic failure, an unusual clinical presentation for hepatic involvement by systemic AA-type amyloid.

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